Members of the trefoil family are characterized by having at least one copy of the trefoil motif, a 40-amino acid domain that contains three conserved disulfides. They are stable secretory proteins expressed in gastrointestinal mucosa. Their functions are not defined, but they may protect the mucosa from insults, stabilize the mucus layer, and affect healing of the epithelium. ... See more...

Aliases for TFF1 Gene

Aliases for TFF1 Gene

  • Trefoil Factor 1 2 3 4 5
  • HP1.A 2 3 4
  • PNR-2 2 3 4
  • PS2 2 3 4
  • Breast Cancer Estrogen-Inducible Protein 3 4
  • Polypeptide P1.A 3 4
  • Protein PS2 3 4
  • D21S21 2 3
  • BCEI 3 4
  • HPS2 2 3
  • Breast Cancer, Estrogen-Inducible Sequence Expressed In 2
  • Breast Cancer Estrogen-Inducible Sequence 3
  • Gastrointestinal Trefoil Protein PS2 3
  • TFF1 5

External Ids for TFF1 Gene

Previous HGNC Symbols for TFF1 Gene

  • BCEI

Previous GeneCards Identifiers for TFF1 Gene

  • GC21M040330
  • GC21M042676
  • GC21M042655
  • GC21M043782
  • GC21M029199

Summaries for TFF1 Gene

Entrez Gene Summary for TFF1 Gene

  • Members of the trefoil family are characterized by having at least one copy of the trefoil motif, a 40-amino acid domain that contains three conserved disulfides. They are stable secretory proteins expressed in gastrointestinal mucosa. Their functions are not defined, but they may protect the mucosa from insults, stabilize the mucus layer, and affect healing of the epithelium. This gene, which is expressed in the gastric mucosa, has also been studied because of its expression in human tumors. This gene and two other related trefoil family member genes are found in a cluster on chromosome 21. [provided by RefSeq, Jul 2008]

GeneCards Summary for TFF1 Gene

TFF1 (Trefoil Factor 1) is a Protein Coding gene. Diseases associated with TFF1 include Bile Reflux and Gastric Ulcer. Among its related pathways are Relaxin signaling pathway and Development Ligand-independent activation of ESR1 and ESR2. Gene Ontology (GO) annotations related to this gene include growth factor activity. An important paralog of this gene is TFF2.

UniProtKB/Swiss-Prot Summary for TFF1 Gene

  • Stabilizer of the mucous gel overlying the gastrointestinal mucosa that provides a physical barrier against various noxious agents. May inhibit the growth of calcium oxalate crystals in urine.

Gene Wiki entry for TFF1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TFF1 Gene

Genomics for TFF1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TFF1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH21J042362 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE dbSUPER 250.7 +1.2 1163 6.5 IKZF1 CEBPA ZNF217 CEBPB ZBTB7B EP300 MBD2 ELF1 FOXA2 CTBP1 HSALNG0133303 TFF1 lnc-TFF1-1 TFF3 TFF2 LOC105372815 HSALNG0133302
GH21J042402 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 11.8 -38.7 -38674 4.8 IKZF1 NCOR1 ZNF592 NFIC SMAD5 HES1 BHLHE40 MBD2 ARNT FOXA2 UBASH3A TFF1 TFF2 TFF3 TMPRSS3 RF00026-639 RNU6-1149P SLC37A1
GH21J042423 Enhancer 1.2 FANTOM5 ENCODE dbSUPER 12.7 -58.3 -58261 3.6 BCLAF1 ZNF207 BCL11A ZNF592 TRIM22 ZNF217 MAFF IRF4 SMC3 ZNF316 UMODL1 TMPRSS3 TFF1 TFF3 TFF2 ZBTB21 ABCG1 UBASH3A C2CD2 RF00026-639
GH21J042360 Enhancer 0.9 Ensembl dbSUPER 15.2 +5.9 5871 0.7 REST ZNF639 ZBTB7B CTCF SMARCA5 PTBP1 HLTF ZSCAN5A CBX1 MAZ TFF1 TFF2 lnc-TFF1-1 LOC105372815 HSALNG0133302
GH21J042392 Enhancer 1 ENCODE dbSUPER 12.7 -26.8 -26751 1.2 BCLAF1 ATF2 CEBPA ZNF592 TRIM22 FOXA2 SMAD4 SAP130 ETV4 RARA RNU6-1149P TFF1 TFF2 HSALNG0133309 TMPRSS3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TFF1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TFF1

Top Transcription factor binding sites by QIAGEN in the TFF1 gene promoter:
  • AML1a
  • C/EBPbeta
  • Gfi-1
  • MyoD
  • NF-kappaB
  • NF-kappaB1
  • Sp1
  • STAT1
  • STAT3

Genomic Locations for TFF1 Gene

Latest Assembly
chr21:42,362,282-42,366,535
(GRCh38/hg38)
Size:
4,254 bases
Orientation:
Minus strand

Previous Assembly
chr21:43,782,391-43,786,644
(GRCh37/hg19 by Entrez Gene)
Size:
4,254 bases
Orientation:
Minus strand

chr21:43,782,391-43,786,703
(GRCh37/hg19 by Ensembl)
Size:
4,313 bases
Orientation:
Minus strand

Genomic View for TFF1 Gene

Genes around TFF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TFF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TFF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TFF1 Gene

Proteins for TFF1 Gene

  • Protein details for TFF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P04155-TFF1_HUMAN
    Recommended name:
    Trefoil factor 1
    Protein Accession:
    P04155

    Protein attributes for TFF1 Gene

    Size:
    84 amino acids
    Molecular mass:
    9150 Da
    Quaternary structure:
    • Heterodimer with GKN2; disulfide linked.

    Three dimensional structures from OCA and Proteopedia for TFF1 Gene

neXtProt entry for TFF1 Gene

Post-translational modifications for TFF1 Gene

No Post-translational modifications

Other Protein References for TFF1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

No data available for DME Specific Peptides for TFF1 Gene

Domains & Families for TFF1 Gene

Gene Families for TFF1 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Plasma proteins
  • Predicted secreted proteins

Protein Domains for TFF1 Gene

InterPro:
Blocks:
  • P-type trefoil domain

Suggested Antigen Peptide Sequences for TFF1 Gene

GenScript: Design optimal peptide antigens:
  • Protein pS2 (TFF1_HUMAN)
genes like me logo Genes that share domains with TFF1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for TFF1 Gene

Function for TFF1 Gene

Molecular function for TFF1 Gene

UniProtKB/Swiss-Prot Function:
Stabilizer of the mucous gel overlying the gastrointestinal mucosa that provides a physical barrier against various noxious agents. May inhibit the growth of calcium oxalate crystals in urine.
GENATLAS Biochemistry:
estrogen-inducible protein,expressed in breast cancer,and some digestive tumors (stomach,pancreas,biliary tract)

Phenotypes From GWAS Catalog for TFF1 Gene

Gene Ontology (GO) - Molecular Function for TFF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
GO:0008083 growth factor activity IEA --
genes like me logo Genes that share ontologies with TFF1: view
genes like me logo Genes that share phenotypes with TFF1: view

Animal Models for TFF1 Gene

MGI Knock Outs for TFF1:
  • Tff1 Tff1<tm1a(EUCOMM)Wtsi>
  • Tff1 Tff1<tm1Mrio>

miRNA for TFF1 Gene

miRTarBase miRNAs that target TFF1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TFF1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for TFF1 Gene

Localization for TFF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TFF1 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TFF1 gene
Compartment Confidence
extracellular 5
plasma membrane 2
cytoskeleton 2
nucleus 2
cytosol 2
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for TFF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IEA,IBA 21873635
genes like me logo Genes that share ontologies with TFF1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TFF1 Gene

Pathways & Interactions for TFF1 Gene

PathCards logo

SuperPathways for TFF1 Gene

genes like me logo Genes that share pathways with TFF1: view

Pathways by source for TFF1 Gene

1 BioSystems pathway for TFF1 Gene
1 KEGG pathway for TFF1 Gene
1 GeneGo (Thomson Reuters) pathway for TFF1 Gene
  • Development Ligand-independent activation of ESR1 and ESR2
1 Cell Signaling Technology pathway for TFF1 Gene

SIGNOR curated interactions for TFF1 Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for TFF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process TAS 2303034
GO:0007165 signal transduction IEA --
GO:0008285 negative regulation of cell proliferation IEA --
GO:0010039 response to iron ion IEA --
GO:0030154 cell differentiation IEA --
genes like me logo Genes that share ontologies with TFF1: view

Drugs & Compounds for TFF1 Gene

(46) Drugs for TFF1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
raloxifene Approved, Investigational Pharma Target 0
Afimoxifene Investigational Pharma Target 9
Calcium Nutra 6959

(27) Additional Compounds for TFF1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with TFF1: view

Transcripts for TFF1 Gene

mRNA/cDNA for TFF1 Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TFF1

Alternative Splicing Database (ASD) splice patterns (SP) for TFF1 Gene

No ASD Table

Relevant External Links for TFF1 Gene

GeneLoc Exon Structure for
TFF1

Expression for TFF1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TFF1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TFF1 Gene

This gene is overexpressed in Stomach (x50.2).

Protein differential expression in normal tissues from HIPED for TFF1 Gene

This gene is overexpressed in Pancreatic juice (58.0) and Oral epithelium (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TFF1 Gene



Protein tissue co-expression partners for TFF1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TFF1

SOURCE GeneReport for Unigene cluster for TFF1 Gene:

Hs.162807

mRNA Expression by UniProt/SwissProt for TFF1 Gene:

P04155-TFF1_HUMAN
Tissue specificity: Found in stomach, with highest levels in the upper gastric mucosal cells (at protein level). Detected in goblet cells of the small and large intestine and rectum, small submucosal glands in the esophagus, mucous acini of the sublingual gland, submucosal glands of the trachea, and epithelial cells lining the exocrine pancreatic ducts but not in the remainder of the pancreas (at protein level). Scattered expression is detected in the epithelial cells of the gallbladder and submucosal glands of the vagina, and weak expression is observed in the bronchial goblet cells of the pseudostratified epithelia in the respiratory system (at protein level). Detected in urine (at protein level). Strongly expressed in breast cancer but at low levels in normal mammary tissue. It is regulated by estrogen in MCF-7 cells. Strong expression found in normal gastric mucosa and in the regenerative tissues surrounding ulcerous lesions of gastrointestinal tract, but lower expression found in gastric cancer (at protein level).

Evidence on tissue expression from TISSUES for TFF1 Gene

  • Stomach(4.9)
  • Intestine(4.5)
  • Kidney(4.3)
  • Pancreas(2.1)
genes like me logo Genes that share expression patterns with TFF1: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for TFF1 Gene

Orthologs for TFF1 Gene

This gene was present in the common ancestor of mammals.

Orthologs for TFF1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia TFF1 29 30
  • 99.21 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia TFF1 29 30
  • 74.9 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Tff1 29 16 30
  • 71.6 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Tff1 29
  • 69.55 (n)
Cow
(Bos Taurus)
Mammalia TFF1 30
  • 58 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia TFF1 30
  • 50 (a)
OneToOne
Species where no ortholog for TFF1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for TFF1 Gene

ENSEMBL:
Gene Tree for TFF1 (if available)
TreeFam:
Gene Tree for TFF1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TFF1: view image
Alliance of Genome Resources:
Additional Orthologs for TFF1

Paralogs for TFF1 Gene

Paralogs for TFF1 Gene

(2) SIMAP similar genes for TFF1 Gene using alignment to 1 proteins:

  • TFF1_HUMAN
genes like me logo Genes that share paralogs with TFF1: view

Variants for TFF1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TFF1 Gene

SNP ID Clinical significance and condition Chr 21 pos Variation AA Info Type
rs120314516 A gastric carcinoma sample p.Gly55Val
rs146367440 Benign: not provided 42,366,424(-) G/A
NM_003225.3(TFF1):c.72C>T (p.Ala24=)
SYNONYMOUS
rs72561490 Benign: not provided 42,362,504(-) G/A
NM_003225.3(TFF1):c.239-9C>T
INTRON
rs961505229 A gastric carcinoma sample p.Ala34Asp
VAR_015281 A gastric carcinoma sample p.Thr32Ile

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TFF1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for TFF1 Gene

Variant ID Type Subtype PubMed ID
nsv471829 CNV novel sequence insertion 20440878

Variation tolerance for TFF1 Gene

Residual Variation Intolerance Score: 71.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.92; 19.05% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TFF1 Gene

Human Gene Mutation Database (HGMD)
TFF1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TFF1
Leiden Open Variation Database (LOVD)
TFF1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TFF1 Gene

Disorders for TFF1 Gene

MalaCards: The human disease database

(19) MalaCards diseases for TFF1 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
bile reflux
gastric ulcer
  • acute gastric ulcer with haemorrhage and perforation
breast cancer
  • breast cancer, familial
breast ductal carcinoma
  • duct carcinoma
autosomal recessive nonsyndromic deafness
  • deafness, autosomal recessive, nonsyndromic
- elite association - COSMIC cancer census association via MalaCards
Search TFF1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for TFF1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with TFF1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TFF1 Gene

Publications for TFF1 Gene

  1. Molecular forms of trefoil factor 1 in normal gastric mucosa and its expression in normal and abnormal gastric tissues. (PMID: 17143957) Ren JL … Shi HX (World journal of gastroenterology 2006) 3 4 22
  2. Expression of trefoil factors 1 and 2 in precancerous condition and gastric cancer. (PMID: 16718800) Shi SQ … Yang JM (World journal of gastroenterology 2006) 3 4 22
  3. Interaction between TFF1, a gastric tumor suppressor trefoil protein, and TFIZ1, a brichos domain-containing protein with homology to SP-C. (PMID: 15924415) Westley BR … May FE (Biochemistry 2005) 3 4 22
  4. Identification of human urinary trefoil factor 1 as a novel calcium oxalate crystal growth inhibitor. (PMID: 16308573) Chutipongtanate S … Thongboonkerd V (The Journal of clinical investigation 2005) 3 4 22
  5. Human trefoil peptides: genomic structure in 21q22.3 and coordinated expression. (PMID: 9043862) Gött P … Blin N (European journal of human genetics : EJHG 1996) 2 3 22

Products for TFF1 Gene

  • Addgene plasmids for TFF1

Sources for TFF1 Gene